Výsledky vyhledávání - Annabelle Chaussenot

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  1. 1
    Neurologic features and genotype‐phenotype correlation in Wolfram syndrome

    Neurologic features and genotype‐phenotype correlation in Wolfram syndrome Autor Annabelle Chaussenot, Sylvie Bannwarth, Cécile Rouzier, B. Vialettes, Samira Ait El Mkadem, B. Chabrol, Aline Cano, Pierre Labauge, Véronique Paquis‐Flucklinger

    Vydáno 2010
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  2. 2
    Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency

    Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency Autor Konstantina Fragaki, Samira Ait-El-Mkadem, Annabelle Chaussenot, Catherine Gire, Raymond Mengual, Laurent Bonesso, Marie Bénéteau, Jean‐Ehrland Ricci, Valérie Desquiret‐Dumas, Vincent Procaccio, Agnès Rötig, Véronique Paquis‐Flucklinger

    Vydáno 2012
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  3. 3
    The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype

    The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype Autor Cécile Rouzier, Sylvie Bannwarth, Annabelle Chaussenot, Arnaud Chevrollier, Annie Verschueren, Nathalie Bonello‐Palot, Konstantina Fragaki, A. Caño, Jean Pouget, J.-F. Pellissier, Vincent Procaccio, B. Chabrol, Véronique Paquis‐Flucklinger

    Vydáno 2011
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  4. 4
    A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions

    A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions Autor Cécile Rouzier, David Moore, Cécile Delorme, Sandra Lacas‐Gervais, Samira Ait-El-Mkadem, Konstantina Fragaki, Florence Burté, Valérie Serre, Sylvie Bannwarth, Annabelle Chaussenot, Martin Catala, Patrick Yu‐Wai‐Man, Véronique Paquis‐Flucklinger

    Vydáno 2017
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  5. 5
    A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions

    A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions Autor Cécile Rouzier, David Moore, Cécile Delorme, Sandra Lacas‐Gervais, Samira Ait-El-Mkadem, Konstantina Fragaki, Florence Burté, Valérie Serre, Sylvie Bannwarth, Annabelle Chaussenot, Martin Catala, Patrick Yu‐Wai‐Man, Véronique Paquis‐Flucklinger

    Vydáno 2017
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  6. 6
    Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation

    Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation Autor Juliette Bacquet, Tanya Stojkovic, Amandine Boyer, Nathalie Martini, Frédérique Audic, B. Chabrol, Emmanuelle Salort‐Campana, Émilien Delmont, Jean-Pierre Desvignes, Annie Verschueren, Shahram Attarian, Annabelle Chaussenot, Valérie Delague, Nicolas Lévy, Nathalie Bonello‐Palot

    Vydáno 2018
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  7. 7
    The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein

    The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein Autor Cécile Rouzier, Sandie Le Guédard-Méreuze, Konstantina Fragaki, Valérie Serre, Julie Miro, Sylvie Tuffery‐Giraud, Annabelle Chaussenot, Sylvie Bannwarth, C. Caruba, Elsebet Østergaard, J.-F. Pellissier, Christian Richelme, Caroline Espil, B. Chabrol, Véronique Paquis‐Flucklinger

    Vydáno 2010
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  8. 8
    DNAJC3 deficiency induces β-cell mitochondrial apoptosis and causes syndromic young-onset diabetes

    DNAJC3 deficiency induces β-cell mitochondrial apoptosis and causes syndromic young-onset diabetes Autor Maria Lytrivi, Valérie Senée, Calvin Ke, Federica Fantuzzi, Anne Philippi, Baroj Abdulkarim, Toshiaki Sawatani, Sandra Marín-Cañas, Nathalie Pachera, Anne Degavre, Pratibha Singh, Céline Derbois, Doris Lechner, Laurence Ladrière, Mariana Igoillo‐Esteve, Cristina Cosentino, Lorella Marselli, Jean‐François Deleuze, Piero Marchetti, Décio L. Eizirik, Marc Nicolino, Annabelle Chaussenot, Cécile Julier, Miriam Cnop

    Vydáno 2021
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  9. 9
    A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement

    A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement Autor Sylvie Bannwarth, Samira Ait-El-Mkadem, Annabelle Chaussenot, Emmanuelle C. Genin, Sandra Lacas‐Gervais, Konstantina Fragaki, Laetitia Berg-Alonso, Yusuke Kageyama, Valérie Serre, David Moore, Annie Verschueren, Cécile Rouzier, Isabelle Le Ber, Gaëlle Augé, Charlotte Cochaud, Françoise Lespinasse, Karine Nguyen, Anne de Septenville, Alexis Brice, Patrick Yu‐Wai‐Man, Hiromi Sesaki, Jean Pouget, Véronique Paquis‐Flucklinger

    Vydáno 2014
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  10. 10
    Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

    Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders Autor Sylvie Bannwarth, Vincent Procaccio, Anne Sophie Lebre, Claude Jardel, Annabelle Chaussenot, Claire Hoarau, Hassani Maoulida, Nathanaël Charrier, Xiaowu Gai, Hongbo Xie, Marc Ferré, Konstantina Fragaki, G. Hardy, Bénédicte Mousson de Camaret, Sandrine Marlin, Claire Marie Dhaenens, Abdelhamid Slama, Christophe Rocher, Jean‐Paul Bonnefont, Agnès Rötig, Nadia Aoutil, Martine Gilleron, Valérie Desquiret‐Dumas, Pascal Reynier, Jennifer Ceresuela, Laurence Jonard, Aurore Devos, Caroline Espil‐Taris, Delphine Martinez, Pauline Gaignard, Kim‐Hanh Le Quan Sang, Patrizia Amati‐Bonneau, Marni J. Falk, Catherine Florentz, B. Chabrol, Isabelle Durand‐Zaleski, Véronique Paquis‐Flucklinger

    Vydáno 2013
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  11. 11
    Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy

    Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy Autor Samira Ait-El-Mkadem, Manal Dayem-Quere, Mirjana Gušić, Annabelle Chaussenot, Sylvie Bannwarth, Bérengère François, Emmanuelle C. Genin, Konstantina Fragaki, Catharina L.M. Volker-Touw, Christelle Vasnier, Valérie Serre, Koen L.I. van Gassen, Françoise Lespinasse, Susan Richter, Graeme Eisenhofer, Cécile Rouzier, Fanny Mochel, Anne de Saint Martin, Marie‐Thérèse Abi Wardé, Monique G.M. de Sain-van der Velde, Judith Jans, Jeanne Amiel, Žiga Avsec, Christian Mertes, Tobias B. Haack, Tim M. Strom, Thomas Meitinger, Penelope E. Bonnen, Robert W. Taylor, Julien Gagneur, Peter M. van Hasselt, Agnès Rötig, Agnès Delahodde, Holger Prokisch, Sabine A. Fuchs, Véronique Paquis‐Flucklinger

    Vydáno 2016
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  12. 12
    Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy

    Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy Autor Johann Böhm, Valérie Biancalana, Elizabeth T. DeChene, Marc Bitoun, Christopher R. Pierson, Élise Schaefer, Hatice Karasoy, Melissa A Dempsey, Fabrice Klein, Nicolas Dondaine, Christine Kretz, Nicolas Haumesser, Claire Poirson, Anne Toussaint, Rebecca S. Greenleaf, Melissa A. Barger, Lane J. Mahoney, Peter B. Kang, Edmar Zanoteli, John Vissing, Nanna Witting, Andoni Echaniz‐Laguna, Carina Wallgren‐Pettersson, James J. Dowling, Luciano Merlini, Anders Oldfors, Lilian Bomme Ousager, Judith Melki, Amanda Krause, Christina Jern, Acary Sousa Bulle Oliveira, Florence Petit, Aurélia Jacquette, Annabelle Chaussenot, David Mowat, Bruno Leheup, Michele Cristofano, Juan José Poza Aldea, Fabrice Michel, A. Furby, José Eulalio Bárcena, Rudy Van Coster, Enrico Bertini, Jon Andoni Urtizberea, Valérie Drouin‐Garraud, Christophe Béroud, Bernard Prudhon, Melanie Bedford, Katherine D. Mathews, Lori A.H. Erby, Stephen A. Smith, Jennifer Roggenbuck, Carol A. Crowe, Allison Brennan Spitale, Sheila C. Johal, Anthony A. Amato, Laurie Demmer, Jessica Jonas, Basil T. Darras, Thomas D. Bird, Mercy Laurino, Selman I. Welt, Cynthia Trotter, Pascale Guicheney, Soma Das, Jean‐Louis Mandel, Alan H. Beggs, Jocelyn Laporte

    Vydáno 2012
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  13. 13
    Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

    Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders Autor Caroline Schluth–Bolard, Flavie Diguet, Nicolas Chatron, Pierre‐Antoine Rollat‐Farnier, Claire Bardel, Alexandra Afenjar, Florence Amblard, Jeanne Amiel, Sophie Blesson, Patrick Callier, Yline Capri, Patrick Collignon, Marie‐Pierre Cordier, Christine Coubes, Bénédicte Demeer, Annabelle Chaussenot, Florence Démurger, Françoise Devillard, Martine Doco‐Fenzy, Céline Dupont, Jean‐Michel Dupont, Sophie Dupuis‐Girod, Laurence Faivre, Brigitte Gilbert‐Dussardier, Anne‐Marie Guerrot, Marine Houlier, Bertrand Isidor, Sylvie Jaillard, Géraldine Joly‐Helas, Valérie Kremer, Didier Lacombe, Cédric Le Caignec, Aziza Lebbar, Marine Lebrun, Gaëtan Lesca, James Lespinasse, Jonathan Lévy, Valérie Malan, Michèle Mathieu‐Dramard, Julie Masson, Alice Masurel‐Paulet, Cyril Mignot, Chantal Missirian, Fanny Morice‐Picard, Sébastien Moutton, Gwenaël Nadeau, Céline Pebrel‐Richard, Sylvie Odent, Véronique Paquis‐Flucklinger, Laurent Pasquier, Nicole Philip, Morgane Plutino, Linda Pons, Marie‐France Portnoï, Fabienne Prieur, Jacques Puechberty, Audrey Putoux, Marlène Rio, Caroline Rooryck, Massimiliano Rossi, Catherine Sarret, Véronique Satre, Jean‐Pierre Siffroi, Marianne Till, Renaud Touraine, Annick Toutain, Jérôme Toutain, Stéphanie Valence, Alain Verloès, Sandra Whalen, Patrick Edery, Anne‐Claude Tabet, Damien Sanlaville

    Vydáno 2019
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